ALK3was also important during the morphogenesis of atrioventricular valves and annulus fibrosus and studies demonstrated that inactivation of Alk3 in the atrioventricular canal myocardium causes abnormalities.29This cardiac phenotype was consistent with our patients who carried a larger 10q deletions (atrioventricular septal defect [AVSD], atrial septal defect, VSD, and tricuspid insufficiency). The gene discussed is BMPR1A; the disease is Atrioventricular canal defect.